Cargando…

Noninvasive prenatal testing aids identification of tetrasomy 18p: A case report

Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a rare chromosomal disorder that is seen in approximately 1 in every 180,000 live births. It is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the short arms of chromosome 1...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tamaki, Yuko, Katagiri, Yukiko, Umemura, Nahomi, Takeshita, Naoki, Morita, Mineto
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7334301/ https://www.ncbi.nlm.nih.gov/pubmed/32642449 http://dx.doi.org/10.1016/j.crwh.2020.e00236

Ejemplares similares

A case report of prenatally diagnosed tetrasomy 18p
por: Jung, Phill-Seung, et al.
Publicado: (2013)

Cases of tetrasomy 9p and trisomy 9p in prenatal diagnosis—Analysis of noninvasive and invasive test results
por: Moczulska, Hanna, et al.
Publicado: (2022)

Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities
por: Karimzad Hagh, Javad, et al.
Publicado: (2017)

Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report
por: Peng, Can, et al.
Publicado: (2022)

Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing
por: Yu, Jialing, et al.
Publicado: (2022)

Tetrasomy 18p: case report and review of literature
por: Bawazeer, Shahad, et al.
Publicado: (2018)

A Systematic Clinical Review of Prenatally Diagnosed Tetrasomy 9p
por: Vinkšel, M, et al.
Publicado: (2019)

First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing
por: Shu, Wendy, et al.
Publicado: (2021)

Tetrasomy 18p Initially Misdiagnosed as Cerebral Palsy in an Adult Patient
por: Mehkri, Yusuf, et al.
Publicado: (2021)

Effects of Assisted Reproduction Technology on Placental Imprinted Gene Expression
por: Katagiri, Yukiko, et al.
Publicado: (2010)

Mosaicism of Tetrasomy 18p: Clinical and Cytogenetic Findings in a Female Child
por: Bai, Jin-Li, et al.
Publicado: (2017)

A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing
por: Zhao, Ganye, et al.
Publicado: (2019)

Dynamic changes in serum steroid hormone during the first trimester of pregnancy between infertile women conceiving with and without hormone replacement therapy
por: Ito, Ayumu, et al.
Publicado: (2021)

Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications
por: Rydzanicz, Małgorzata, et al.
Publicado: (2020)

Application of ultrasound combined with noninvasive prenatal testing in prenatal testing
por: Liu, Ci, et al.
Publicado: (2022)

Effective Identification of Maternal Malignancies in Pregnancies Undergoing Noninvasive Prenatal Testing
por: Li, Jia, et al.
Publicado: (2022)

Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
por: Slimani, Wafa, et al.
Publicado: (2019)

A Novel Graphic-Aided Algorithm (gNIPT) Improves the Accuracy of Noninvasive Prenatal Testing
por: Zhu, Qingwen, et al.
Publicado: (2020)

Ultrasound‐guided laparotomic oocyte retrieval during surgery for fertility preservation in a case of tumor recurrence after a unilateral salpingo‐oophorectomy
por: Ito, Ayumu, et al.
Publicado: (2018)

Genome-wide DNA methylation analysis in obese women predicts an epigenetic signature for future endometrial cancer
por: Nagashima, Masaru, et al.
Publicado: (2019)

Effect of blastocyst shrinkage on assisted reproductive outcomes: a retrospective cohort study describing a new morphological evaluation of blastocyst pre-vitrification and post-warming
por: Ito, Ayumo, et al.
Publicado: (2023)

Minimally invasive endoscopic fenestration of a spinal arachnoid cyst in a child with tetrasomy 18p: illustrative case
por: Imperato, Alessia, et al.
Publicado: (2022)

Genetic counseling prior to assisted reproductive technology
por: Katagiri, Yukiko, et al.
Publicado: (2020)

Development of a comprehensive noninvasive prenatal test
por: Malcher, Carolina, et al.
Publicado: (2018)

Noninvasive Prenatal Testing - When Is It Advantageous to Apply
por: Liehr, Thomas, et al.
Publicado: (2017)

Prenatal diagnosis of a de novo tetrasomy 15q24.3‐25.3: Case report and literature review
por: Hu, Xiaonan, et al.
Publicado: (2020)

Prenatal diagnosis of a de novo trisomy 20p detected by noninvasive prenatal testing
por: Yan, Xu, et al.
Publicado: (2021)

Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18
por: Hochstenbach, R., et al.
Publicado: (2015)

Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction?
por: Houge, Gunnar, et al.
Publicado: (2009)

Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing
por: Mansfield, Nerida, et al.
Publicado: (2015)

Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl
por: Dharmadhikari, Avinash V., et al.
Publicado: (2022)

Digynic triploidy: utility and challenges of noninvasive prenatal testing
por: Fleischer, Julie, et al.
Publicado: (2015)

Advantages of the Quadruple Screen over noninvasive prenatal testing
por: Keller, Nathan A., et al.
Publicado: (2016)

Report on noninvasive prenatal testing: classical and alternative approaches
por: Pantiukh, Kateryna S., et al.
Publicado: (2016)

Patient Perception of Negative Noninvasive Prenatal Testing Results
por: Wittman, A. Theresa, et al.
Publicado: (2016)

Analysis of the impact of noninvasive prenatal testing for trisomies 21 and 18 in twin pregnancies undergoing artificial reproductive technology
por: Yang, Cuiyu, et al.
Publicado: (2022)

Trocar-site hernia following laparoscopic salpingo-oophorectomy in a middle-aged Japanese woman: an initial case report after 40 years of experience at a single center and a brief literature review
por: Ota, Kuniaki, et al.
Publicado: (2022)

The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)
por: Battaglia, Agatino
Publicado: (2008)

‘Blastoid’ variant of Burkitt lymphoma with additional partial 1q tetrasomy
por: Siddiqi, Ahsan, et al.
Publicado: (2018)

A case report of hypersomnia in tetrasomy X improved with medical therapy
por: Jayaraman, Dilip, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_tdo35n27qcerr29gq5s7rfk6s2